St. Jude has been committed to understanding, treating, and curing sickle cell disease since its opening in 1962.
Sickle cell disease (SCD) is an autosomal recessive disorder caused by a missense mutation in the HBB gene, which encodes the ß-subunit of adult hemoglobin. Now, recent insights into the regulatory mechanisms of red blood cell gene expression and emerging technologies to manipulate the genome are fueling innovative new therapies and potential cures for SCD.
Discoveries made at St. Jude, in collaboration with investigators across the country, are rapidly advancing our appreciation for the nuances of gene editing, our understanding of the genomic regulatory landscape, and our capacity to implement new technologies in the therapeutic development pipeline. The insights gained from these studies hold the promise to transform the way we understand and treat sickle cell disease and other ß-hemoglobinopathies.
Scientists at St. Jude Children’s Research Hospital have unveiled a link between the HIF1 protein's response to low oxygen conditions and increased expression of fetal hemoglobin in adults, potentially paving the way for innovative treatments in sickle cell disease and beta-thalassemia.
Scientists at St. Jude Children’s Research Hospital and the Broad Institute of MIT and Harvard showed how prime editing can correct the mutation that causes sickle cell disease in a potentially curative approach.
Sickle Cell Disease Data Portal
The Sickle Cell Disease Portal offers robust genomic and clinical data from cohorts of individuals with sickle cell disease. This data, offered on St. Jude Cloud, is easily and securely available to academic researchers. Genetic modifiers strongly influence outcomes in sickle cell disease. The goal of the Sickle Cell Disease Portal is to promote global collaborative efforts to understand the genetic underpinnings of the disease and develop better therapies.
Doctors and researchers work together to learn how to best treat children and manage their sickle cell disease, including sickle cell anemia and other disorders. Bridging the gap between treatment and research, St. Jude scientists are conducting a study to help uncover insights into the long-term effects of sickle cell disease, including sickle cell anemia and other disorders. In addition, St. Jude will sequence the genomes of 1,000 children with sickle cell disease to understand why some patients experience more severe symptoms.